Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.C934*
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CFAP43

NM_025145.7:p.C934*

Associated Papers

Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.

Li K et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.

Li Y et al.

Journal of Alzheimer's Disease : Jad, 2024

Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection.

Ma J et al.

Asian Journal of Andrology, 2023

NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF).

Wu H et al.

Reproductive Biomedicine Online, 2019

A systematic review on the genetics of male infertility in the era of next-generation sequencing.

Robay A et al.

Arab Journal of Urology, 2018

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.

Tang S et al.

American Journal of Human Genetics, 2017

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.

Khan I et al.

Asian Journal of Andrology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."